Canonical Allele Identifier: CA2662978044
Gene: ABCA12 HGNC NCBI

Linked Data

gnomAD v4: 2-214978674-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214978680del , CM000664.2:g.214978680del GRCh38
NC_000002.11:g.215843404del , CM000664.1:g.215843404del GRCh37
NC_000002.10:g.215551649del NCBI36
NG_007074.1:g.164753del

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4977+129del MANE Select ENSP00000272895.7:n.4977+129del
ENST00000272895.11:c.4977+129del ENSP00000272895.7:n.4977+129del
ENST00000389661.4:c.4023+129del ENSP00000374312.4:n.4023+129del
NM_015657.3:c.4023+129del NP_056472.2:n.4023+129del
NM_173076.2:c.4977+129del NP_775099.2:n.4977+129del
NR_103740.1:n.5277+129del
XM_011510951.1:c.4986+129del XP_011509253.1:n.4986+129del
XM_011510952.1:c.4986+129del XP_011509254.1:n.4986+129del
XM_011510951.2:c.4986+129del XP_011509253.1:n.4986+129del
NM_173076.3:c.4977+129del MANE Select NP_775099.2:n.4977+129del
NR_103740.2:n.5475+129del
NM_015657.4:c.4023+129del NP_056472.2:n.4023+129del
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